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image: Caught on Camera

Caught on Camera

By The Scientist Staff | May 1, 2018

Selected rare-disease Images of the Day from the-scientist.com

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Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

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image: Copper Connections

Copper Connections

By Jim Daley | May 1, 2018

Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.

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image: Eliza’s Story

Eliza’s Story

By The Scientist Staff | May 1, 2018

Watch the viral video that helped the family of a child with Sanfilippo syndrome raise more than $2 million.

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image: Fighting Canavan Disease

Fighting Canavan Disease

By The Scientist Staff | May 1, 2018

Meet the parents seeking to fund research into a rare disease that afflicts their two boys.

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Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.

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image: Rare Disease Geneticist: A Profile of Uta Francke

Rare Disease Geneticist: A Profile of Uta Francke

By Anna Azvolinsky | May 1, 2018

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

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The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

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image: Ten-Minute Sabbatical

Ten-Minute Sabbatical

By The Scientist Staff | May 1, 2018

Take a break from the bench to puzzle and peruse.

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The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

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